Archive for the ‘Kids’ Category

Whose Mess??

“Family meeting!” I yelled. “Everyone  come to the kitchen!”

As my three teens gathered around me, I asked, “WHO made the mess with the coffee grounds??”

Someone had removed the lid of the coffee grounds container and made a mess with the grounds on the counter and on the floor.

“Not me!”

“Not me!”

”Not me!” chimed my kid’s one-by-one.

But then I notice a clue… and I know who made the mess.

You little stinker…

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Can We Talk About Hugging?

It’s something that comes up over and over and over again in the world of disability and special education.

The hot topic: hugging.

Seriously.

At some point in the history of special education/ special programs, someone decided that it was inappropriate for a person with a disability to greet people with a hug. And they set out to eradicate the practice of hugging altogether for those individuals who present with a disability or other social difficulties.

The argument is that it’s inappropriate. We should replace it with a more accepted practice of handshakes, fist bumps, or high fives.

If you are reading this blog and thinking I’m making this stuff up, then you either don’t have a child with a disability or your child is still young enough to have not started hugging yet or still young enough that the powers that be deem it still age-appropriate. But I assure you, this popular and ultra-important mandate in the world of special education is a real thing and at some point you will discover the truth that this vendetta against hugging is regarded in a much higher level of importance than even most academic skills. Really and truly. Just wait.

If I had a dollar for every time an aide, teacher, diagnostician, or other professional addressed this issue with me, I’d be able to afford a huge social media campaign to change the world’s view on this topic.

Can I just state a fact?

Hugging is an appropriate greeting for a girl.

And I’m going to get crazy here and add that it’s also an appropriate greeting for a boy.

I can already hear the gasps of the special education professionals in the room. It’s okay. I’ve made them gasp before. And there are plenty of those professionals whom I love dearly, and they know I’m nothing if not an honest, state-it-like-it-is mama. And, perhaps surprisingly, most of them respect and appreciate me for it.

So, yes, hugging is an appropriate greeting.

My daughter is a hugger. It’s who she is. It’s what she does. I cannot tell you the number of times I’ve heard someone tell her that they love her hugs. Many a person has been blessed by Chloe’s hugs. Some might go so far as to say it’s part of her gifting… blessing others with a hug.

And there have been plenty of people in Chloe’s 17 years who have made it their goal to break her of it. Some have even tried to incorporate it into IEP goals. (Again, folks, no hard feelings to those who have tried to eradicate Chloe’s hugging. I recognize they were only acting on what they had been taught to believe was important and appropriate. I believe they all had the best of intentions, and most of them LOVED my kid.)

But, no. We aren’t gonna do that.

Let me ask you a question. A couple of questions.

When was the last time you saw a teenage girl walk up to a circle of her friends and offer a handshake to each of them as a greeting? Mmmmmm, yeah, it’s been a while, hasn’t it? Teenage girls don’t do that. I’m guessing her friends would think she was a weirdo actually.

Let’s remove the wheelchair and the need for additional adult support from this situation… if a typical teenager hugged her friends or her favorite teacher everyday, would you think it was inappropriate and vow to eradicate the behavior? I’m guessing not. It’s totally appropriate for a teenage girl to greet people with a hug. I see them do it all the time. (Clarification: I, of course, recognize that some “hugs” are more than hugs, but I’m not at all talking about lap-dance style hugging…. That’s another topic for someone else’s blog. I’m talking about a quick, friendly hug of greeting.)

So how does Chloe’s disability suddenly make hugging inappropriate? Let me answer that for you. It doesn’t.

Instead of trying to eradicate the hugging nature of my child and so many others, let’s try a new approach.

If there’s a teacher who doesn’t want to hug, let’s have that teacher advocate for herself/ himself and tell Chloe, “No thanks. Let’s shake hands.”

If there’s a student who doesn’t want a hug, let’s teach THAT STUDENT that he/ she can say, “No.”

Aren’t we currently teaching people/ children to speak up and advocate for themselves and SAY NO to things they don’t like? Perfect. Let’s do that here. Let’s have the expectation that people can and will advocate for themselves when taught to do so.

And let’s leave the huggers alone. Let the huggers hug.

Not changing my girl for the world; changing the world for my girl.

The Song

As our departure date for family camp in Alabama drew near, we received weekly update emails from Hope Heals Camp detailing more information about what to expect.

Two or three weeks before camp, the email mentioned a talent show. I immediately knew Chloe would be interested in playing a song for the talent show.

Chloe and I have nearly daily “instrument parties” in her bedroom. Usually she plays cello, her main instrument, while I play ukulele. However, we sometimes switch it up and one of us plays keyboard, or she plays accordion or recorder or harmonica. She would literally play instruments 24/7 if she had her way.

It was highly impractical to take her cello to family camp: The camp was a 12 hour drive away from our home in Ft. Worth, Texas; the cello is quite expensive and fragile and our car would be quite packed with the necessities of camp; and we couldn’t leave the cello in the heat of the car when we stopped at restaurants or other stops.  For those reasons, Chloe decided she would instead play keyboard at the talent show (even though she would’ve much rather played cello).

She and I have a book of 365 songs for ukulele. The book has a great selection of a wide variety of songs. Chloe can read music but prefers to play by ear … and does so very well. I, on the other hand, cannot at all play by ear so I’m very dependent on the book for the songs that we play each day. I told her she could choose any song from the book for us to play at the talent show. Out of 365 songs, she decided we would play Edelweiss.  While I love Edelweiss and think it sounds beautiful when she plays it on her cello, I tried to talk her out of it.

“No one knows that song anymore.” I tried.

“Maybe we should play something upbeat instead…” I suggested.

But she wouldn’t be swayed. Edelweiss it would be.

Fast forward to the first night of Hope Heals Camp. All the campers, volunteers, and staff mingled around the camp fire singing camp songs. At the end of the night, Jay stood up and announced it was time for our Goodnight Song. He explained that it was tradition for everyone at camp to sing the Goodnight Song everynight before bed. It was a special song to Katherine and had become special to Hope Heals Camp. And then he led us in the Goodnight Song… to the tune of no other than… Edelweiss.

It was my first chill bumps and tears of the week. As Jay described it, it was a special God Wink that Chloe had chosen to play Edelweiss later that week.

I’m so glad Chloe didn’t listen to me as I tried to convince her to play a different song. She knows what’s up.

(Additional behind-the-scenes story: On the night of the talent show, I left the book of songs in our cabin and didn’t realize it until we were situated on stage ready to play. Total Mom fail! I leaned over to Chloe and explained that she was going to have to play without me because I didn’t have the book. I tried my darndest to play it by ear/ memory, but that’s completely out of my skill set. Our performance did NOT go as planned. Chloe did fine, but she was so shy and hesitant to play her song while I was destroying it on my end. Truly no one at Camp was the wiser because Chloe just reveled in the applause of all of her fans at the end. I apologized profusely for messing up her performance; she’s forgiven me completely.)

#HopeHealsCamp

#HopeHeals

Flooding Tears

I recently visited a local high school with a friend. Her son who has Down syndrome will be a student at this school next year. The transition to high school is a big one. She and her family have been working on this transition for years, fighting the status quo in our state, which is to keep kids with significant disabilities in special classes away from their non disabled peers.

Special classes for kids with disabilities are called self-contained classes. Self-contained as opposed to mingling about and switching teachers, classrooms, and subjects throughout the day. Typically these self-contained students stay in one classroom all day long and receive their instruction from one teacher with the help of several aides. Sometimes the students in these classes are allowed to go to elective classes or lunch with other kids. But for the most part, they are kept hidden away in private classrooms without any interaction with non disabled students.

My friend and I and several other friends of ours have been fighting against this status quo for years. We believe that our children should be educated right alongside peers who do not have disabilities. We believe that the positive peer pressure from being with these students and the friendships with these other students are life-giving and important. We believe that even if our children can’t demonstrate that they are learning everything the other students are learning, they deserve to be exposed to everything the other students are learning. The difference is literally as plain as our children still learning about the calendar and the weather and counting to 30 in high school instead of learning about the Periodic Table or the Cell Cycle. (Disclaimer: perhaps that is a simplified example, but it is true to what I have witnessed and heard about in Texas high schools)

So the other day while visiting this local high school, my friend and I stood talking in the entryway to the school, right outside of the front office. We stood in an active, busy thoroughfare of the main hallway of the school. We watched groups of students filing to lunch and to the library; then we watched students filing from lunch and on to class. The students, of course, came in waves as the passing periods came and went in the middle of the day. I love teenagers so I enjoyed watching them come and go, laughing or joking or cutting up as they went.

But then, surprisingly, when the hallway was quiet since it was not a main passing period, a group of about 8 or 10 students came parading by. A couple of them were holding hands with teachers and being led down the hall. It became clear that this was the special education class. The self-contained class. The kids with disabilities. The hall was empty except for these few students. They didn’t even pass paths with their typical peers during passing periods. They didn’t even see other kids on their way back from lunch. It was just them in the empty hallway.

My friend and I watched silently.

“Oh my gosh,” I finally whispered. It was as though I had been punched in the gut. I could not breathe as I watched them walk by.

And then the tears came. And they came hard.

Now, I am not a crier. I don’t cry. But here, in the entryway of this high school, I started crying. And I couldn’t stop. I think I mostly controlled my heaving breaths that were trying to escape my lungs as I tried to control my tears, but the tears certainly came.

It broke my heart. It made me angry. It made me sad.

And the emotions flooded.

This. This is why we fight. This is why we work so hard to get inclusion for our kids. This is why we help families. This is why we spread the word that inclusive education is important.

I was overwhelmed with the injustice of it all — the injustice that somehow these students were deemed unworthy to be learning with the other students. The realization that without loud, vocal, fighting mamas– this is exactly where our kids would be, separated from the rest of the world, parading down the hall with these students all the way to their private classroom, away from the other students and away from the rich learning taking place in those other classrooms.

And I realized that all the nights I complain about helping Chloe with her difficult homework from her 9th grade biology class or her Algebra I class, I should have been so thankful that she had the opportunity to learn biology and algebra instead of being ushered down the hall away from those subjects. All of those nights of hours of homework with her are worth it!

That hard World Geography semester review that had frustrated me the night before? I was suddenly so very thankful that Chloe and I were able to struggle through it. Because the alternative is no homework, no world geography, and no inclusion.

That parade of students showed me, reminded me, that everything we do and everything we’ve done has a purpose and it’s all worthwhile. All the fighting, all the work, all the rocking of the boat and questioning the norm has a purpose. We are fighting so that our children won’t be a part of that parade that passes by after all the other kids are in class. We are fighting so that our children can learn everything that the other kids are learning. We are fighting so that when a friend mentions their 3-D cell project or the Periodic Table, our children will know what the heck they’re talking about.

Yes, the tears came. And, yes, it was awkward and embarrassing. But the tears and the emotion were strong enough to remind me of the importance of our fight. The emotion reminded me why we speak up. And the emotion reminded me what we’re fighting for and what we’re fighting against.

I believe that my kids have the right to be educated right alongside the other kids. And I believe that ALL KIDS have the right to be educated right alongside the other kids.

I only wish I could help more students. I only wish I could convince more families to fight. I only wish I could stop that private and sad parade going down the hall while the rest of the world is off learning together.

Oh, how I want to change the world. Oh, how I want to change the status quo.

Happy Birthday!

As I recently explained, Chloe has become quite the party animal lately. Everything is a party. All day, everyday, party, party, party.

Another consistent thing in Chloe’s day is the birthday song. It pairs nicely with the whole party scene, don’t you think?

photo source: cliffordgarstang.com

Chloe has a couple of different apps on her ipad that play the birthday song. And the song has been on repeat for months. We sing happy birthday to all of her stuffed animals and all of her babies. We sing happy birthday to the cello, to the Christmas tree, and to the Walmart employee who brings our groceries out to the car. We sing happy birthday to singers who come on the radio, to our dog Flo, and to the sunshine.

There is a routine to the singing of the birthday song. Once the birthday object has been identified, Chloe plays the song on her ipad, we sing the birthday song, hug the lucky birthday object (if possible), and then we always tell him/her/it to have a fun party. It’s a very rigid birthday routine. The routine is greatly loved and very carefully carried out multiple times each day. If there happens to be something handy that can stand in as birthday candles, then we add blowing out the candles to the birthday song routine, too. Sometimes there are even gifts exchanged.

So fair warning, if you run into us somewhere, be prepared to be the birthday boy or girl! And guess what? You can play along with us and pretend it’s your birthday even if it really isn’t. And if you’re lucky, you might get some pretend candles to blow out and a birthday gift to enjoy for a couple of minutes. Don’t worry. Don’t get weirded out. Don’t feel awkward. Just let us celebrate you for a minute. You just might enjoy it. 🙂

Everything’s a Party!

Our girl has become a party girl. For the last six months or so, everything’s a party! Literally EVERYTHING’s a party.

In talking about her upcoming orchestra concert, it’s not a concert, it’s an instrument party. Her cheer practice is now a cheer party. Church is a worship party. School is a friend party. The Baylor football game is a football party. The halftime show is an instrument party. You get the idea.

One day when we were headed to the cemetery to take flowers to Papa’s grave, she named it a grave party and a flower party. While she sat there on his grave, she continued to proclaim it a party. A sweet memory, to be sure.

 

Literally everything is a party. Everyday, multiple times a day, there are parties left and right. You wouldn’t believe the parties you’ve been missing.

While her brothers at times find the multitudes of parties slightly annoying, the truth is, we can yet again learn something from our girl. Just think of the joy we would experience if we approached everything as a party! If we shared Chloe’s outlook and viewed everything as a party, we just might find ourselves enjoying even the mundane tasks in life.

Why do the laundry when you can instead go to a laundry party or a folding party? Don’t think of it as rush hour traffic; instead, call it a car party! Dreading fixing dinner? How about an ingredients party or a cooking party instead?

It’s not hard to catch on to the whole party scene. In no time at all, we, like Chloe, could become total party animals! And we just might find ourselves smiling with each step throughout the day.

Got any parties on your agenda this week? No? Hmmmmmm.

Well, pardon me for now while I head off to Walmart for a grocery party! 🙂

New Answers

Here’s the scoop in a nutshell: Chloe, who has never had a true diagnosis, finally has a diagnosis! It seems that she has a mutation in gene EBF3 which caused a genetic syndrome that involves developmental delay and other characteristics. It’s a brand new find in the world of genetics so there’s not much to know other than that. If you want the whole story in a long blog post, keep reading…and sorry for the spoiler. 😉 And, now, for the rest of the story:

 

IMG_3511Earlier this month, we got a very interesting phone call from Chloe’s geneticist.  It seems it was possibly the most interesting news from her in …about 15 years. 

Remember that Chloe remains undiagnosed. Early on, neurologists and geneticists could not agree if her issues were genetic or neurological. Finally everyone agreed that it was genetic, but still there was no diagnosis. Chloe continued to see her geneticist each year, and if there were any new tests that had been developed over the last 12 months, then she was sent for those tests. But each test came back normal or inconclusive. Eventually, her doctors started calling it Chloe Syndrome since there were no answers.

Several years ago, Chloe did a whole genome sequencing and microarray study when it was first developed. It was a very smart, very high tech, very exciting genetic test that held a lot of hope for answers. It was a way to look at the very ends of genes and chromosomes to see if there were any smaller deletions or mutations. It was very expensive and wasn’t often covered by insurance. Chloe’s doctors jumped through many hoops to get the genome sequencing set up. The sequencing included extensive studies of Chloe’s blood samples and Paul’s and my blood. And the results took months to come back. But, again, in the end, these reports showed no answers and no diagnosis. 

A side note here in case you don’t know about the world of genes… through the years, syndromes and diseases have been identified, and many of them can be seen in gene studies. When a doctor tests to see if a person has a specific syndrome, the lab can be pinpointed to look at that specific gene to look for a mutation or a deletion. Likewise, if a mutation is found in a particular gene, it will sometimes lead to a diagnosis if that gene is associated with a certain syndrome. However, sometimes, a mutation can be seen in a gene, but it doesn’t lead to diagnosis because that gene hasn’t been associated with any syndrome and/or that gene hasn’t been connected to any disease or dysfunction. So, while Chloe’s gene sequencing showed a few abnormalities, the abnormalities were not of note because those genes had not been identified as being pathogenic (disease-causing). 

Fast forward to our phone call. Chloe’s geneticist had just received in the mail a letter from Baylor Medicine saying they had revisited Chloe’s sequencing because of a couple of very new studies and discoveries, and they thought maybe they had found the gene responsible for Chloe’s issues. 

Wow. We (and her doctor) were shocked. It was honestly never expected to ever find the cause of Chloe’s medical issues. It was hoped, yes. But even at our recent appointment at the genetics clinic, the doctor again explained that we likely would never have any answers. 

The letter pointed to one of Chloe’s genetic mutations and mentioned some recent studies that had finally linked this particular gene with some similarities in a very small group of patients. After some research, we definitely agree that this newfound information sheds light on Chloe’s issues. The similarities in the patients identified very closely resembles Chloe’s health history; thus, we have found the cause of Chloe’s genetic syndrome.

Sooooooo… the culprit mentioned in the letter…. the culprit that is the root of all of Chloe’s issues is a slight mutation in Chloe’s EBF3 gene. Never heard of it? Well, that’s because until very recently, EBF3 was not linked to any change of function or cause of disease so it has not been talked about. Until now.

Again, while the variance in EBF3 showed up when they first ran her genome sequencing a few years ago, at that time it was inconsequential because that gene had not been recognized to have any pathogenic effect. However, now they have found some clinical similarities associated with that gene. 

There are a small handful of articles that have been published in the last year discussing several studies surrounding EBF3 and a small number of patients who have a mutation. In fact, one of the studies from October 2016 includes 10 patients…”subjects,” if you will. And while I was reading the study, I was surprised to realize that Chloe was actually Subject 8 in that study! The subjects are never named, but there were several tell-tale details that made it clear that it was Chloe. Pretty cool that our girl was involved in one of the very first studies of patients involving this particular gene! (The unanswered question is why didn’t they notify the families a year ago that they were making some advances with a diagnosis….)

Through these research studies, the researchers determine clinical similarities between subjects who have the mutation. And with these similarities, they form a list of characteristics that most people with a mutation in gene EBF3 exhibit.

According to the research studies, it seems that patients with EBF3 variance have the following issues:

  • Low/weak muscle tone (Hypotonia)
  • Developmental delay
  • Balance/gait issues (Ataxia)
  • Expressive language issues
  • Urinary tract issues/ namely vesicoureteral reflux
  • Strabismus (eye muscle issues)
  • Weak facial muscles (inability to smile)
  • Autism-like symptoms
  • Repetitive muscle movements 

Shall I go on??? 

Amazing, right? It’s an exact list of Chloe’s issues. There is literally nothing mentioned in the studies that doesn’t ring true with Chloe! She has additional medical issues that are not on their list. But the truth is, some of those will likely be added to the list as doctors and scientists perform more studies with a larger group of patients. 

So there you have it. EBF3. 

It looks like currently there are maybe 30 people identified as having a developmental disability because of a mutation in EBF3. And it has been tagged with the name HADDS: Hypotonia Ataxia Developmental Delay Syndrome. The oldest person that I’ve read about is 25, and then Chloe is maybe the next oldest. Of course, this will continue to change as more individuals are identified. The patients have varying degrees of the characteristics. Some walk; some don’t. Some talk; some don’t. At first glance, it appears that Chloe has a more severe mutation than some, but, again, that may change as more is discovered about this population. 

So we have an answer. After nearly 16 years we have an answer.

But literally nothing changes. Chloe’s still the same Chloe. There’s no cure for her syndrome. There’s no new treatment to start. We simply know the gene responsible. And we know that it was a spontaneous mutation — not passed from either parent; sometimes mutations just happen.

But just like that, our family became part of an exclusive “club” that before now had declined our membership. The club of diagnosis. The club of EBF3 mutation. The club of HADDS. Of course, the families in our particular club are at this point still scattered about wondering what to do with the new information. I started a blog specifically to find and unite families who search the web for EBF3. I plan to post on it fairly regularly to keep Google in the loop for anytime someone searches EBF3. I found a Facebook page for families of EBF3. There are only 3 or 4 people in the group — this is still very new, and we are a very small population. But it was exciting to exchange greetings and photos with those families. Who knows? Maybe we will plan some sort of HADDS convention or something and hang with those families just because we can.

And that’s all we have. Thoughts??

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